Dravet syndrome

Dravet Syndrome is part of our Childhood Epilepsy Panel (NGS). Click here to access a complete list of the genes covered in this panel. 

 

DESCRIPTION

 

Dravet is a rare genetic epileptic encephalopathy with an approximate incidence of 1 in 30.000 births, previously known as SMEI. 

 

Beginning usually around age 1, the first seizures are often associated with a fever and may be of the  tonic-clonic (involving stiffness and jerking) or clonic types (jerking). The seizures associated can be quite prolonged in time, lasting for 15-30 minutes or more. During the second stage of the disease, the frequency, persistence and variety of the seizures increases, while these can also become focalized in a specific body part. After 6 years of age there can be improvements regarding the frequency and intensity of the seizures, and progress. However, developmental issues (cognitive, motor) arise and persist throughout the patient's lifetime, or be associated to other health problems.

 

Commonly misdiagnosed, about 80% of the patients with this syndrome have a mutation in a gene (SCN1A) that causes problems in the way that sodium channels in the brain work. This mutation is most often a "de novo" (not inherited)  mutation in the child. Genetic testing can therefore contribute to achieve an accurate diagnose and have a positive impact on those affected by this syndrome and their ability to get an early treatment.

 

All of Amplexa's neurology tests can be found in our Neurology Brochure.

 

 

 

 

 

 

 

 

 

For more information

 

neurology